Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Genetic hemochromatosis is a disorder of iron metabolism that results in deposition of massive amounts of iron in the tissues. Arthropathy is one of numerous clinical manifestations associated with this disease. Characteristic radiographic features have been reported in the hand and wrist, and the hip; however, there is no mention in the literature of joint manifestations in the foot and ankle. In this report, the authors present three patients with hemochromatosis arthropathy of the foot and ankle. Two patients presented primarily with foot pain and were treated initially with orthoses. One of these patients went on to have to midfoot arthrodesis performed. The third patient presented with ankle joint symptoms, and was treated successfully with an ankle foot orthosis. The arthritis of hemochromatosis has classic radiographic findings. However, the arthritis of hemochromatosis may be difficult to differentiate from several other joint diseases. Characteristic features of this disease in the foot and ankle are discussed.
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PMID:Hemochromatosis of the foot and ankle. Report of three cases and review of the literature. 958 73

Flupirtine is a triaminopyridine-derived centrally acting analgesic, which interacts with mechanisms of noradrenergic pain modulation. Recently, it has been found to display neuroprotective effects in various models of excitotoxic cell damage, global and focal ischemia. Although this profile suggests that flupirtine acts as an antagonist of the N-methyl-D-aspartate (NMDA) and glutamate-triggered Ca2+ channel, there is no direct interaction with the receptor. In this paper, we examined whether flupirtine can act as an antioxidant and prevent free radical-mediated structural damage. Flupirtine at 5-30 microM inhibited ascorbate/ Fe2+ (1-10 microM)-stimulated formation of thiobarbituric reactive substances, an indicator of lipid peroxidation, in rat brain mitochondria. Interestingly, we found an increasing effectiveness of the drug at higher iron concentrations. Additionally, higher concentrations of flupirtine also provided protection against protein oxidation, as demonstrated by a decrease in protein carbonyls formed after treatment of rat brain homogenates with ascorbate/Fe2+. In PC12 cell culture, flupirtine at 10-100 microM was able to attenuate H2O2-stimulated cell death and improve the survival by 33%.
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PMID:Antioxidant properties of the triaminopyridine, flupirtine. 982 31

We describe a patient with hemochromatosis and coexistent infection with the hepatitis C virus who was initially thought to have rheumatoid arthritis. His symptoms began at the age of 44 with pain of the hand joints, shoulders, hips, and knees and a positive rheumatoid factor. Four years later, he required replacement of both hips due to severe hip arthritis. Abnormalities in liver function were noted early on, but they were attributed to infection with the hepatitis C virus, detected serologically and by polymerase chain reaction amplification in the blood. The correct diagnosis was delayed until a decision to use methotrexate as treatment for his arthritis led to a liver biopsy, which revealed increased iron deposition consistent with hemochromatosis, confirmed by genetic testing, which revealed that the patient was homozygous for the C282Y mutation of the HLA-H gene.
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PMID:Diagnostic confusion caused by hepatitis C: hemochromatosis presenting as rheumatoid arthritis. 1049 93

Unemployment is considered to be a public health concern since deterioration in the health of the unemployed is often anticipated. However, for some groups, such as miners, unemployment might improve health due to a cessation of potentially harmful occupational exposures. This study evaluates the health of 79 miners in one Swedish iron-ore mine, and 226 age-matched controls from the general population, during one year after the closure of the mine. The participants received a questionnaire regarding medical history and subjective symptoms at the beginning of the study period, and after one year. Statistically significant negative effects on self-reported health attributable to unemployment were not found, although neuropsychiatric symptoms were more common among the unemployed miners. The miners reported a statistically significant improvement in grip force (p = 0.031). They had a significantly higher prevalence of symptoms associated with mining related exposures when compared with the population controls; pain in the upper extremities [relative risk (RR) = 2.27, 95% confidence interval (CI) = 1.44-3.59), back pain (RR = 1.84; CI = 1.23-2.75), vasospastic disease of the fingers (RR = 2.05; CI = 1.18-3.57) and obstructive respiratory symptoms (attacks of dyspnea and wheezing: RR = 3.67; CI = 1.16-11.6).
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PMID:Self-reported health problems among Swedish miners one year after unemployment. 987 12

The prevalence of anaemia in patients with cancer lies between 10 and 40%, depending on the type of tumor and chemotherapy. Anaemia has a significant impact on the quality of life, along with pain or disease progression. There are multiple causes but the physiopathology resembles that of inflammatory anaemia. The following mechanisms can be distinguished: a resistance of the erythroid precursor cells (BFU-e, CFU-e) to erythropoietin, an inappropriately decreased renal erythropoietin secretion for a given haemoglobin value and alterations of the iron metabolism leading to a functional iron deficiency. Recombinant human erythropoietin (r-hu-EPO) is safe and efficient in the treatment of anaemia of chronic renal failure and rheumatoid arthritis. In oncology different phase I and II studies have demonstrated an efficacy (increase of haemoglobin, decrease of transfusion requirements) in about 50% of all adult patients. A response to a subcutaneous r-hu-EPO treatment with a relatively high posology of 150 U/kg three times a week can be expected after one to two months. No single reliable parameter will predict a response to the r-hu-EPO treatment. Several phase III studies confirm that anaemia in cancer patients undergoing chemotherapy (notably with cisplatin) can be corrected in 40 to 60% of all cases and that the haemoglobin increase improves the quality of life. Finally, recent clinical trials suggest that an early r-hu-EPO treatment might prevent the occurrence of anaemia secondary to chemotherapy. Several parameters will have to be specified such as the precise definition of the groups at risk, the appropriate haemoglobin level to initiate a r-hu-EPO treatment, its optimal posology, as well as the role of the iron substitution and its route of administration. The impact of the r-hu-EPO treatment on the quality of life of cancer patients constitutes a priority for future studies, which will have define the exact role of r-hu-EPO in oncology management.
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PMID:[Tumor anemia. Overview of the role of human recombinant erythropoietin (r-hu-EPO) in treatment of tumor anemia]. 1006 75

Genetic haemochromatosis is a HLA-linked disease characterized by a high and inappropriate gastrointestinal iron absorption; the excess iron is stored in parenchymal cells, provoking the failure of the involved organs. The common target organs of genetic haemochromatosis are liver, heart, pancreas, pituitary, joints and skin. The disease is inherited in an autosomal recessive manner with predilection for male sex and penetration conditioned by age, sex and food habits. The first clinical manifestation of genetic haemochromatosis, whose onset is typically between ages 40 and 60, is represented by arthropathy in 45% of the cases; the articular features are unfortunately often misdiagnosed and it is known that the diagnosis delay heavily compromises the outcome; vice-versa the early identification of the disease, and the consequent suitable treatment give back a normal life expectancy to these patients. The articular features of genetic haemochromatosis are of two types: 1) progressive degenerative arthropathy, characterized by pain without inflammatory signs, morning stiffness and functional impairment involving hands, wrists, shoulders, hips, knees and feet; 2) chondrocalcinosis with its typical proteiform clinical manifestations. The aim of this report is to underline that the patients with premature osteoarthritis or unexplained chondrocalcinosis must be screened for genetic haemochromatosis in order to formulate the correct diagnosis before the development of severe internal organ involvement.
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PMID:[The articular damage of hemochromatosis. A little known aspect]. 1035 39

Yersinia enterocolitica can cause enteritis, right lower-quadrant pain mimicking appendicitis, reactive arthritis, and erythema nodosum. This organism is transmitted through food, animal contact, and contaminated blood products. Patients with iron excess are at a higher risk for serious infection. This article describes the history, microbiology, virulence factors, epidemiology, clinical manifestations, diagnosis, and therapy of Y. enterocolitica and Y. pseudotuberculosis. In addition, the immune response of those developing reactive arthritis following infection with Y. enterocolitica is discussed.
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PMID:Yersinia enterocolitica and Yersinia pseudotuberculosis. 1054 24

Temporomandibular disorder pain dysfunction syndrome (TDPDS) is the most common cause of facial pain after toothache. The symptoms are varied but are likely to affect the choice, intake and enjoyment of food. This has not been previously investigated. In this paper a preliminary study of 35 patients attending a department of oral and maxillofacial surgery at a general hospital is presented. Thirty-one subjects reported that eating was a problem; 15 prepared food differently and 24 considered that their choice of food was limited. Four of the five foods most often reported to be difficult to eat are valuable in the diet: meat (22), apples (20), bread (13), toast (7) and toffees (6). Twenty-three subjects reported eating a softer diet. Most (25) reported pain when eating. Such circumstances make it harder for TDPDS sufferers to meet current nutritional guidelines, especially, perhaps, for some to achieve an adequate intake of iron.
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PMID:Does temporomandibular disorder pain dysfunction syndrome affect dietary intake? 1076 83

The mitochondrial matrix of the yeast Saccharomyces cerevisiae contains two molecular chaperones of the Hsp70 class, Ssc1 and Ssq1. We report that Ssc1 and Ssq1 play sequential roles in the import and maturation of the yeast frataxin homologue (Yfh1). In vitro, radiolabeled Yfh1 was not imported into ssc1-3 mutant mitochondria, remaining in a protease-sensitive precursor form. As reported earlier, the Yfh1 intermediate form was only slowly processed to the mature form in Deltassq1 mitochondria (S. A. B. Knight, N. B. V. Sepuri, D. Pain, and A. Dancis, J. Biol. Chem. 273:18389-18393, 1998). However, the intermediate form in both wild-type and Deltassq1 mitochondria was entirely within the inner membrane, as it was resistant to digestion with protease after disruption of the outer membrane. Therefore, we conclude that Ssc1, which is present in mitochondria in approximately a 1,000-fold excess over Ssq1, is required for Yfh1 import into the matrix, while Ssq1 is necessary for the efficient processing of the intermediate to the mature form in isolated mitochondria. However, the steady-state level of mature Yfh1 in Deltassq1 mitochondria is approximately 75% of that found in wild-type mitochondria, indicating that this retardation in processing does not dramatically affect cellular concentrations. Therefore, Ssq1 likely has roles in addition to facilitating the processing of Yfh1. Twofold overexpression of Ssc1 partially suppresses the cold-sensitive growth phenotype of Deltassq1 cells, as well as the accumulation of mitochondrial iron and the defects in Fe/S enzyme activities normally found in Deltassq1 mitochondria. Deltassq1 mitochondria containing twofold-more Ssc1 efficiently converted the intermediate form of Yfh1 to the mature form. This correlation between the observed processing defect and suppression of in vivo phenotypes suggests that Ssc1 is able to carry out the functions of Ssq1, but only when present in approximately a 2,000-fold excess over normal levels of Ssq1.
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PMID:Role of the mitochondrial Hsp70s, Ssc1 and Ssq1, in the maturation of Yfh1. 1077 57

Monoclonal gammopathy is a group of B-cell disorders which result in the production of a specific and unique monoclonal immunoglobulin (M-component). Biclonal gammopathy is characterized by the simultaneous appearance of two different M-components. The incidence is about 1% of all monoclonal gammopathy. This paper reports on a 48-year-old male who had a chief complaint of back-pain beginning 7 months earlier. A physical examination was unremarkable, except for anemia and tenderness in the back. Hemoglobin was 5.4 g/dl, white blood cells 4.5 x 10(3)/microliter, platelets 157 x 10(3)/microliter, and reticulocytes 0.9%. Serum iron was 79 mg/dl, and total iron-binding capacity was 210 mg/dl. A blood smear showed the formation of rouleaux, but no plasma cells were found. Serum creatinine was 5.4 mg/dl, with a creatinine clearance of 18.1 ml/min. Serum electrolytes were normal except for serum calcium which was 14.4 mg/dl. The urinalysis showed strongly positive proteinuria (+2), with negative Bence Jones protein. Serum protein electrophoresis showed an increase and a spike pattern of beta-2 globulin (2.8 g/dl) and alpha-2 globulin (1.5 g/dl), with normal gamma globulin. By nephelometry technique, serum IgG was normal (1388 mg/dl), IgA was high (900 mg/dl), and IgM was also high (517 mg/dl). Advanced and extensive osteolytic lesions were found in the clavicle, ribs, skull, humerus, femur, and columna vertebralis. Plasma cells (myeloma cells) in bone marrow were 32%. The clinical diagnosis was multiple myeloma (biclonal gammopathy) stage IIIB (Durie and Salmon staging system). Clinical response was good after two series of conventional chemotherapy, with normal serum electrophoresis, decreasing serum creatinine and serum calcium. Based on the above data, the diagnosis of multiple myeloma with biclonal gammopathy was confirmed. This is a rare case with a combination of IgA and IgM M-components.
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PMID:Biclonal gammopathy in multiple myeloma: a case report. 1089 8


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